Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents.
about
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.Genetic disorders and defects in vitamin d action.Inherited hypertrichoses.Interaction of the vitamin D receptor with a vitamin D response element in the Mullerian-inhibiting substance (MIS) promoter: regulation of MIS expression by calcitriol in prostate cancer cells.Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3).Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor.
P2860
Q33587906-3AA5CBCD-3E1C-4CC3-BAF2-81631FA27CE7Q33888779-2F56FB62-A49F-49E0-8D79-718D73045A3DQ34703656-5752D56B-0F91-4DC0-8B00-2B6481C00E2AQ37136953-26C164AC-7A6D-49EE-B40D-8E667500FBEEQ37362493-76097A01-515D-420B-833D-985FB6ACCF5FQ40803905-486742BC-328A-4720-AD59-3B3E5B1F15B0Q42002009-C41FC9D4-7271-4DDA-99CB-549E8EE7440A
P2860
Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh-hant
name
Syndrome of lipoatrophic diabe ...... orn to consanguineous parents.
@en
Syndrome of lipoatrophic diabe ...... orn to consanguineous parents.
@nl
type
label
Syndrome of lipoatrophic diabe ...... orn to consanguineous parents.
@en
Syndrome of lipoatrophic diabe ...... orn to consanguineous parents.
@nl
prefLabel
Syndrome of lipoatrophic diabe ...... orn to consanguineous parents.
@en
Syndrome of lipoatrophic diabe ...... orn to consanguineous parents.
@nl
P2093
P2860
P1476
Syndrome of lipoatrophic diabe ...... orn to consanguineous parents.
@en
P2093
L Van Maldergem
R Bouillon
Y Gillerot
P2860
P304
P356
10.1002/(SICI)1096-8628(19960823)64:3<506::AID-AJMG12>3.0.CO;2-P
P577
1996-08-01T00:00:00Z